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A de novo or germline mutation in a family with Mucolipidosis III gamma: Implications for molecular diagnosis and genetic counseling.

ABSTRACT: Mucolipidosis III (ML III) gamma is a very rare autosomal-recessive disorder characterized by the abnormal trafficking and subcellular localization of lysosomal enzymes due to mutations in the GNPTG gene. The present study consists of a report of a Brazilian compound heterozygote patient with ML III gamma resulting from one mutant paternal allele and one allele that had most likely undergone a de novo or maternal germline mutation. This is the first report of a de novo mutation in ML III gamma. This finding has significant implications for genetic counseling.

SUBMITTER: Velho RV

PROVIDER: S-EPMC5121289 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature

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A de novo or germline mutation in a family with Mucolipidosis III gamma: Implications for molecular diagnosis and genetic counseling.

Velho Renata Voltolini RV Alegra Taciane T Sperb Fernanda F Ludwig Nataniel Floriano NF Saraiva-Pereira Maria Luiza ML Matte Ursula U Schwartz Ida V D IV

Molecular genetics and metabolism reports 20140227

Mucolipidosis III (ML III) gamma is a very rare autosomal-recessive disorder characterized by the abnormal trafficking and subcellular localization of lysosomal enzymes due to mutations in the GNPTG gene. The present study consists of a report of a Brazilian compound heterozygote patient with ML III gamma resulting from one mutant paternal allele and one allele that had most likely undergone a de novo or maternal germline mutation. This is the first report of a de novo mutat ...[more]

PMID: 27896079

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